A Novel Heterozygous Intronic <scp>FBN1</scp> Variant Contributes to Aberrant <scp>RNA</scp> Splicing in Marfan Syndrome
This research identified a novel intronic pathogenic FBN1: c.443-3C>G gene variant, which led to two different aberrant splicing effects. Further functional analysis expands the variant spectrum and provides a strong indication and sufficient basis for preimplantation genetic testing for monogenic disease (PGT-M).
Authors
- He‐Feng Huang (ORCID: https://orcid.org/0000-0002-0195-985X)
- Djouhayna Dougarem
- Qiong Luo (ORCID: https://orcid.org/0000-0002-0782-4462)
- Yi‐Xiao Chen
- Yi‐Na Sun
Institutions
- Chinese Academy of Medical Sciences & Peking Union Medical College (CN)
- Women's Hospital, School of Medicine, Zhejiang University (CN)
- Obstetrics and Gynecology Hospital of Fudan University (CN)
- Zhejiang University (CN)
Publication Details
- Journal
- Molecular Genetics & Genomic Medicine
- Published
- 2024-09-01
- DOI
- https://doi.org/10.1002/mgg3.70004
- Citations
- 2
- Primary Topic
- Connective tissue disorders research
- Type
- article
- Field-Weighted Citation Impact
- 1.10
Funders
- Shanghai Municipal Health Commission
- National Natural Science Foundation of China
- Shanghai Clinical Research Center
- National Health Commission of the People's Republic of China
- National Key Research and Development Program of China